Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation

JAK2(V617F) mutation is found in about 60% of cases of essential thrombocytemia (ET) and represents a driving mutation. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by a low platelet (PLT) count. So far, only 2 reports described ET following ITP. For the first time we analyze...

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Autores principales: Caocci, Giovanni, Atzeni, Sandra, Usai, Monica, La Nasa, Giorgio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758937/
https://www.ncbi.nlm.nih.gov/pubmed/29326868
http://dx.doi.org/10.1016/j.lrr.2017.12.002
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author Caocci, Giovanni
Atzeni, Sandra
Usai, Monica
La Nasa, Giorgio
author_facet Caocci, Giovanni
Atzeni, Sandra
Usai, Monica
La Nasa, Giorgio
author_sort Caocci, Giovanni
collection PubMed
description JAK2(V617F) mutation is found in about 60% of cases of essential thrombocytemia (ET) and represents a driving mutation. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by a low platelet (PLT) count. So far, only 2 reports described ET following ITP. For the first time we analyzed in a patient the JAK2(V617F) allele burden at ITP onset occurred 13 years before the ET diagnosis and found the presence of a small clone JAK2(V617F) positive clone (3%) raised to 27% in the following years. The association of ET and ITP could suggest similar pathogenetic mechanisms that should be further investigated.
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spelling pubmed-57589372018-01-11 Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation Caocci, Giovanni Atzeni, Sandra Usai, Monica La Nasa, Giorgio Leuk Res Rep Article JAK2(V617F) mutation is found in about 60% of cases of essential thrombocytemia (ET) and represents a driving mutation. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by a low platelet (PLT) count. So far, only 2 reports described ET following ITP. For the first time we analyzed in a patient the JAK2(V617F) allele burden at ITP onset occurred 13 years before the ET diagnosis and found the presence of a small clone JAK2(V617F) positive clone (3%) raised to 27% in the following years. The association of ET and ITP could suggest similar pathogenetic mechanisms that should be further investigated. Elsevier 2017-12-27 /pmc/articles/PMC5758937/ /pubmed/29326868 http://dx.doi.org/10.1016/j.lrr.2017.12.002 Text en © 2017 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Caocci, Giovanni
Atzeni, Sandra
Usai, Monica
La Nasa, Giorgio
Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation
title Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation
title_full Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation
title_fullStr Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation
title_full_unstemmed Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation
title_short Essential thrombocytemia following immune thrombocytopenia with JAK2V617F mutation
title_sort essential thrombocytemia following immune thrombocytopenia with jak2v617f mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758937/
https://www.ncbi.nlm.nih.gov/pubmed/29326868
http://dx.doi.org/10.1016/j.lrr.2017.12.002
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